Cardiomyopathies

Meet the patient

A 24-year-old electrician is brought to the emergency department after a witnessed syncope during a basketball game, on a background of six months of exertional breathlessness and a paternal uncle who died suddenly at 38. His echo shows asymmetrical septal hypertrophy with a maximal wall thickness of 24 mm, an LVOT gradient of 70 mmHg on Valsalva, systolic anterior motion of the mitral valve, and a preserved ejection fraction. His Holter captured a run of non-sustained ventricular tachycardia.^[1]

The question his stem plants is the question every HCM viva turns on: how high is the risk of sudden cardiac death, and does this young man need an implantable defibrillator? Hold that, and the phenotype, the murmur, and the family history below all point to one decision.^[1]

References14ShowHide

1. [1]Ommen SR, Mital S, Burke MA, et al. 2020 AHA/ACC Guideline for the Diagnosis and Treatment of Patients With Hypertrophic Cardiomyopathy: A Report of the American College of Cardiology/American Heart Association Joint Committee on Clinical Practice Guidelines Circulation, 2020.PMID 33215931
2. [2]O'Mahony C, Jichi F, Pavlou M, et al. A novel clinical risk prediction model for sudden cardiac death in hypertrophic cardiomyopathy (HCM risk-SCD) Eur Heart J, 2014.PMID 24126876
3. [3]Olivotto I, Oreziak A, Barriales-Villa R, et al. Mavacamten for treatment of symptomatic obstructive hypertrophic cardiomyopathy (EXPLORER-HCM): a randomised, double-blind, placebo-controlled, phase 3 trial Lancet, 2020.PMID 32871100
4. [4]Maron BJ, Shen WK, Link MS, et al. Efficacy of implantable cardioverter-defibrillators for the prevention of sudden death in patients with hypertrophic cardiomyopathy N Engl J Med, 2000.PMID 10666426
5. [5]Marcus FI, McKenna WJ, Sherrill D, et al. Diagnosis of arrhythmogenic right ventricular cardiomyopathy/dysplasia: proposed modification of the Task Force Criteria Eur Heart J, 2010.PMID 20172912
6. [6]Maurer MS, Schwartz JH, Gundapaneni B, et al. Tafamidis Treatment for Patients with Transthyretin Amyloid Cardiomyopathy N Engl J Med, 2018.PMID 30145929
7. [7]Køber L, Thune JJ, Nielsen JC, et al. Defibrillator Implantation in Patients with Nonischemic Systolic Heart Failure N Engl J Med, 2016.PMID 27571011
8. [8]McMurray JJV, Packer M, Desai AS, et al. Angiotensin-neprilysin inhibition versus enalapril in heart failure N Engl J Med, 2014.PMID 25176015
9. [9]McMurray JJV, Solomon SD, Inzucchi SE, et al. Dapagliflozin in Patients with Heart Failure and Reduced Ejection Fraction N Engl J Med, 2019.PMID 31535829
10. [10]Elliott P, Andersson B, Arbustini E, et al. Classification of the cardiomyopathies: a position statement from the European Society Of Cardiology Working Group on Myocardial and Pericardial Diseases Eur Heart J, 2008.PMID 17916581
11. [11]Weintraub RG, Semsarian C, Macdonald P Dilated cardiomyopathy Lancet, 2017.PMID 28190577
12. [12]Felker GM, Thompson RE, Hare JM, et al. Underlying causes and long-term survival in patients with initially unexplained cardiomyopathy N Engl J Med, 2000.PMID 10760308
13. [13]Gillmore JD, Maurer MS, Falk RH, et al. Nonbiopsy Diagnosis of Cardiac Transthyretin Amyloidosis Circulation, 2016.PMID 27143678
14. [14]Sherrid MV, Barac I, McKenna WJ, et al. Multicenter study of the efficacy and safety of disopyramide in obstructive hypertrophic cardiomyopathy J Am Coll Cardiol, 2005.PMID 15837258